ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645413944
Gene: PSAP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
300534
ClinVar RCV Id:
RCV000279820
RCV000333853
RCV000334914
RCV000388278
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002769.1:p.Thr38Ser
CA5547902
NM_002778.4:c.112A>T